By Jacqueline Savard. First published in The Conversation.

17 September 2012

Jacqueline Savard explores the growing prevalence of genetic testing and what impact they have on over-diagnosis.

Genetic testing and screening is increasingly becoming a presence in our lives. Daily news reports discuss new associations between genes and common conditions. And these associations are used to calculate risks for individuals who have the genes for the conditions, but don't display any symptoms.

In essence, these people become the "worried well", a group of people not yet ill, but at risk of developing diseases.

Genetic tests and over-diagnosis

Once restricted to the domain of the clinic, genetic testing is now available to most people, either through their doctor or via the internet. There are a variety of tests in the market, some of which can provide risk estimates associated with complex common diseases such as diabetes, obesity, Alzheimer's disease and cancer.

A major concern with such tests is that they're the beginning of a path toward over-diagnosis, where the potential to develop a disease or being at risk for the disease is strong enough to constitute a label of sickness.

Over-diagnosing includes, but is not limited to, widening disease definitions, early detections of abnormalities that may or may not cause symptoms or death and the use of increasingly sensitive technologies that detect "abnormalities," the causes and consequences of which are unknown at this time.

Genetic testing and screening could be seen as the ultimate test (the most fundamental part of one's body and life is used to classify a person as ill or potentially ill), so what are the implications of using this technology to assist in diagnosing and classifying people?

Originally posted here:
How genetic testing is swelling the ranks of the 'worried well'

Comments are closed.